BRD1
bromodomain containing 1
Summary
This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142330712 | 22:50,167,902 | G/A | — | likely benign |
| rs1489931543 | 22:50,167,916 | C/T | — | uncertain significance |
| rs140537265 | 22:50,167,923 | G/A | — | likely benign |
| rs1219696200 | 22:50,167,946 | G/A | — | uncertain significance |
| rs769189277 | 22:50,168,015 | T/C | — | uncertain significance |
| rs779657585 | 22:50,169,306 | C/G | — | uncertain significance |
| rs540795646 | 22:50,169,311 | A/G | — | uncertain significance |
| rs369287535 | 22:50,169,316 | C/T | — | likely benign |
| rs144134015 | 22:50,169,346 | G/C | — | benign |
| rs756317589 | 22:50,169,372 | G/A | — | uncertain significance |
| rs9628129 | 22:50,169,770 | G/A | — | benign |
| rs1385970417 | 22:50,169,796 | T/C | — | uncertain significance |
| rs375338194 | 22:50,169,801 | C/G | — | uncertain significance |
| rs147405126 | 22:50,169,802 | C/T | — | uncertain significance |
| rs368330772 | 22:50,169,811 | C/T | — | likely benign |
| rs369960913 | 22:50,170,688 | C/T | — | uncertain significance |
| rs2518352975 | 22:50,170,741 | C/G | — | uncertain significance |
| rs114483505 | 22:50,170,743 | G/A | — | benign |
| rs757367533 | 22:50,170,744 | C/T | — | uncertain significance |
| rs2518366393 | 22:50,171,338 | A/G | — | uncertain significance |
| rs749277542 | 22:50,171,341 | G/A | — | uncertain significance |
| rs372097126 | 22:50,171,383 | C/T | — | uncertain significance |
| rs753597177 | 22:50,171,396 | C/G | — | uncertain significance |
| rs149357003 | 22:50,171,414 | C/T | — | likely benign |
| rs770971061 | 22:50,171,437 | G/A | — | uncertain significance |
| rs933085584 | 22:50,171,440 | C/T | — | uncertain significance |
| rs756703870 | 22:50,181,049 | C/T | — | uncertain significance |
| rs766018593 | 22:50,181,087 | G/A | — | likely benign |
| rs140147452 | 22:50,181,097 | C/T | — | uncertain significance |
| rs755643978 | 22:50,181,098 | G/C | — | uncertain significance |
| rs757708315 | 22:50,181,109 | C/G | — | uncertain significance |
| rs749519370 | 22:50,187,692 | C/T | — | likely benign |
| rs758328445 | 22:50,187,693 | G/A | — | uncertain significance |
| rs768510528 | 22:50,187,699 | G/A | — | likely benign |
| rs200883151 | 22:50,187,708 | G/A | — | uncertain significance |
| rs78921765 | 22:50,187,715 | C/T | — | benign |
| rs140113662 | 22:50,187,728 | G/A | — | benign |
| rs200383896 | 22:50,187,793 | G/A | — | uncertain significance |
| rs764309578 | 22:50,187,838 | C/A | — | uncertain significance |
| rs35331092 | 22:50,187,853 | C/T | — | benign |
| rs150570710 | 22:50,187,923 | G/T | — | likely benign |
| rs200560894 | 22:50,191,479 | G/A | — | uncertain significance |
| rs145415691 | 22:50,191,485 | G/A | — | benign |
| rs570130928 | 22:50,191,494 | C/T | — | uncertain significance |
| rs757188736 | 22:50,191,495 | G/A | — | uncertain significance |
| rs773539531 | 22:50,191,551 | C/T | — | uncertain significance |
| rs772303615 | 22:50,191,677 | T/C | — | uncertain significance |
| rs146099862 | 22:50,191,691 | C/T | — | likely benign |
| rs1393834078 | 22:50,191,692 | C/T | — | uncertain significance |
| rs149829026 | 22:50,192,227 | C/T | — | likely benign |
| rs376208895 | 22:50,192,297 | G/C | — | uncertain significance |
| rs757174022 | 22:50,192,303 | C/T | — | uncertain significance |
| rs775441478 | 22:50,192,316 | C/T | — | uncertain significance |
| rs2518680236 | 22:50,192,325 | C/T | — | uncertain significance |
| rs376646773 | 22:50,192,338 | G/A | — | likely benign |
| rs781108454 | 22:50,192,701 | C/T | — | uncertain significance |
| rs768899119 | 22:50,192,756 | A/G | — | likely benign |
| rs1293396826 | 22:50,197,998 | T/A | — | uncertain significance |
| rs138857 | 22:50,199,589 | C/T | intron variant | — |
| rs764429512 | 22:50,216,621 | C/T | — | uncertain significance |
| rs747238332 | 22:50,216,639 | C/T | — | likely benign |
| rs147595191 | 22:50,216,725 | C/T | — | likely benign |
| rs140730234 | 22:50,216,758 | T/C | — | benign |
| rs143624797 | 22:50,216,763 | G/A | — | likely benign |
| rs376924866 | 22:50,216,850 | G/A | — | likely benign |
| rs890092412 | 22:50,216,922 | T/C | — | likely benign |
| rs368482373 | 22:50,217,260 | T/C | — | uncertain significance |
| rs11912787 | 22:50,217,387 | A/G | — | benign |
| rs751909889 | 22:50,217,398 | T/G | — | uncertain significance |
| rs1171181977 | 22:50,217,550 | T/C | — | uncertain significance |
| rs138141016 | 22:50,217,577 | G/A | — | uncertain significance |
| rs762464745 | 22:50,217,594 | G/A | — | likely benign |
| rs76483085 | 22:50,217,633 | C/T | — | benign |
| rs779060123 | 22:50,217,634 | G/A | — | uncertain significance |
| rs34755679 | 22:50,217,649 | C/G | — | benign |
| rs2147434503 | 22:50,217,843 | C/A | — | uncertain significance |
| rs149523607 | 22:50,217,867 | G/A | — | likely benign |
| rs138880 | 22:50,218,611 | A/C | upstream gene variant | — |
| rs77692990 | 22:50,219,952 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.